Incidental Mutation 'R1323:Mtnr1b'
| ID |
172458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtnr1b
|
| Ensembl Gene |
ENSMUSG00000050901 |
| Gene Name |
melatonin receptor 1B |
| Synonyms |
Mel1b, Mt2 |
| MMRRC Submission |
039389-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
15773910-15785852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15774432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 209
(F209S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057920]
[ENSMUST00000182947]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057920
AA Change: F209S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053086
Gene: ENSMUSG00000050901
AA Change: F209S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
48 |
254 |
3.7e-11 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
51 |
323 |
2.6e-12 |
PFAM |
|
Pfam:7tm_1
|
57 |
308 |
3.4e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
59 |
317 |
1.1e-7 |
PFAM |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182947
AA Change: F209S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138524
Gene: ENSMUSG00000050901
AA Change: F209S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
48 |
264 |
1.8e-10 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
51 |
323 |
2.6e-12 |
PFAM |
|
Pfam:7tm_1
|
57 |
308 |
1.4e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
59 |
319 |
7.5e-8 |
PFAM |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no obvious circadian phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
| Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
| Akr1e1 |
C |
T |
13: 4,657,547 (GRCm39) |
G17E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,805,609 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,259,864 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,783,030 (GRCm39) |
|
probably benign |
Het |
| Frzb |
G |
A |
2: 80,243,720 (GRCm39) |
P320S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,437,278 (GRCm39) |
P10L |
possibly damaging |
Het |
| Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
| H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,868,810 (GRCm39) |
|
probably null |
Het |
| S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
Het |
| Zfp600 |
A |
G |
4: 146,133,261 (GRCm39) |
Y643C |
probably damaging |
Het |
|
| Other mutations in Mtnr1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Mtnr1b
|
APN |
9 |
15,774,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02041:Mtnr1b
|
APN |
9 |
15,774,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02054:Mtnr1b
|
APN |
9 |
15,785,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02147:Mtnr1b
|
APN |
9 |
15,774,672 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02620:Mtnr1b
|
APN |
9 |
15,785,617 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03046:Mtnr1b
|
UTSW |
9 |
15,774,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Mtnr1b
|
UTSW |
9 |
15,785,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Mtnr1b
|
UTSW |
9 |
15,774,081 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1323:Mtnr1b
|
UTSW |
9 |
15,774,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Mtnr1b
|
UTSW |
9 |
15,774,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1600:Mtnr1b
|
UTSW |
9 |
15,774,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2880:Mtnr1b
|
UTSW |
9 |
15,774,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2932:Mtnr1b
|
UTSW |
9 |
15,785,620 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4033:Mtnr1b
|
UTSW |
9 |
15,774,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5532:Mtnr1b
|
UTSW |
9 |
15,774,210 (GRCm39) |
missense |
probably benign |
|
|
R5765:Mtnr1b
|
UTSW |
9 |
15,774,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Mtnr1b
|
UTSW |
9 |
15,774,168 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5893:Mtnr1b
|
UTSW |
9 |
15,774,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6025:Mtnr1b
|
UTSW |
9 |
15,774,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Mtnr1b
|
UTSW |
9 |
15,774,082 (GRCm39) |
missense |
probably benign |
|
|
R6349:Mtnr1b
|
UTSW |
9 |
15,774,509 (GRCm39) |
nonsense |
probably null |
|
|
R6364:Mtnr1b
|
UTSW |
9 |
15,774,300 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7485:Mtnr1b
|
UTSW |
9 |
15,774,590 (GRCm39) |
nonsense |
probably null |
|
|
R8114:Mtnr1b
|
UTSW |
9 |
15,785,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8707:Mtnr1b
|
UTSW |
9 |
15,785,809 (GRCm39) |
start gained |
probably benign |
|
|
R8750:Mtnr1b
|
UTSW |
9 |
15,785,724 (GRCm39) |
nonsense |
probably null |
|
|
R9405:Mtnr1b
|
UTSW |
9 |
15,774,447 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9442:Mtnr1b
|
UTSW |
9 |
15,785,660 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAAGGCCGATACAGTTGAG -3'
(R):5'- CTGCTGCATCTGTCATAGTACCACC -3'
Sequencing Primer
(F):5'- CCGATACAGTTGAGGGGGG -3'
(R):5'- TAGTACCACCTACCACCGGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation